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Links from MedGen

Items: 1 to 100 of 437

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFL
(R37C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(L111V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(D200N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(A505V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(A491P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(Y178C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(G32R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(D96V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(K281E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(S255P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(T250P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(R30S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(E509K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(Q141P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(W279L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(Q340E)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(Q414fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 2E
GPathogenic
NEFL
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(E228K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(A533S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(R172C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
(Y389S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(E186Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(S416F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(I79N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(R16W)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(M273T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
LOC126860330, NEFL
(I386V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(L311P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
(I384F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GPathogenic
NEFL
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
LOC126860330, NEFL
(A366V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(E168G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(E526K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(R196S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(R323Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(S445fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(N98D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GConflicting classifications of pathogenicity
NEFL
(M65T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GUncertain significance
NEFL
(R421Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GUncertain significance
LOC126860330, NEFL
(L375H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GUncertain significance
NEFL
(R87C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Deletion
Charcot-Marie-Tooth disease type 2E
GUncertain significance
CDCA2, DOCK5
+4 more
Deletion
Charcot-Marie-Tooth disease type 2E
GPathogenic
NEFL
(E194G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NEFL
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(E320K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 2E
GLikely pathogenic
NEFL
(R164H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(M65V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(E501fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(T88K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
(E165A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(T35I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
(Y389C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GLikely pathogenic
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(S184N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(L312P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(E289D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(S67N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(E337Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
LOC126860330, NEFL
(L376P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Deletion
(nonsense)
Charcot-Marie-Tooth disease type 2E
GPathogenic
NEFL
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(S42R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(Y265N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GLikely pathogenic
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